CHCHD3 — 33 ClinVar variants
All ClinVar germline CHCHD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
33 Uncertain significance
Full CHCHD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHCHD3 p.Ala120Thr Uncertain significance Single submitter
- CHCHD3 p.Ala124Ser Uncertain significance Single submitter
- CHCHD3 p.Ala167Ser Uncertain significance Single submitter
- CHCHD3 p.Ala52Val Uncertain significance Single submitter
- CHCHD3 p.Ala67Val Uncertain significance Single submitter
- CHCHD3 p.Arg117His Uncertain significance Single submitter
- CHCHD3 p.Arg132Gln Uncertain significance Single submitter
- CHCHD3 p.Arg35Gln Uncertain significance Single submitter
- CHCHD3 p.Arg48Trp Uncertain significance Single submitter
- CHCHD3 p.Asp59Val Uncertain significance Single submitter
- CHCHD3 p.Gln87Glu Uncertain significance Single submitter
- CHCHD3 p.Glu150Lys Uncertain significance Single submitter
- CHCHD3 p.Glu178Gln Uncertain significance Single submitter
- CHCHD3 p.Glu69Lys Uncertain significance Single submitter
- CHCHD3 p.Glu80Lys Uncertain significance Single submitter
- CHCHD3 p.Glu90Asp Uncertain significance Single submitter
- CHCHD3 p.Lys119Thr Uncertain significance Single submitter
- CHCHD3 p.Lys89Asn Uncertain significance Single submitter
- CHCHD3 p.Pro181Leu Uncertain significance Single submitter
- CHCHD3 p.Ser29Leu Uncertain significance Single submitter
- CHCHD3 p.Ser40Phe Uncertain significance Single submitter
- CHCHD3 p.Thr159Asn Uncertain significance Single submitter
- CHCHD3 p.Thr201Asn Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CHCHD3 p.Arg117Cys Uncertain significance Single submitter
- CHCHD3 p.Arg157Ile Uncertain significance Single submitter
- CHCHD3 p.Arg195Cys Uncertain significance Single submitter
- CHCHD3 p.Cys204Tyr Uncertain significance Single submitter
- CHCHD3 p.Glu109Lys Uncertain significance Single submitter
- CHCHD3 p.Gly226Glu Uncertain significance Single submitter
- CHCHD3 p.Leu191Ile Uncertain significance Single submitter
- CHCHD3 p.Ser46Cys Uncertain significance Single submitter
- CHCHD3 p.Thr5Ile Uncertain significance Single submitter
All CHCHD3 variants
Uncertain significance 33
- p.Ala120Thr Single submitter ⚠
- p.Ala124Ser Single submitter ⚠
- p.Ala167Ser Single submitter ⚠
- p.Ala52Val Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg117His Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg157Ile Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg48Trp Single submitter ⚠
- p.Asp59Val Single submitter ⚠
- p.Cys204Tyr Single submitter ⚠
- p.Gln87Glu Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Glu150Lys Single submitter ⚠
- p.Glu178Gln Single submitter ⚠
- p.Glu69Lys Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Glu90Asp Single submitter ⚠
- p.Gly226Glu Single submitter ⚠
- p.Leu191Ile Single submitter ⚠
- p.Lys119Thr Single submitter ⚠
- p.Lys89Asn Single submitter ⚠
- p.Pro181Leu Single submitter ⚠
- p.Ser29Leu Single submitter ⚠
- p.Ser40Phe Single submitter ⚠
- p.Ser46Cys Single submitter ⚠
- p.Thr159Asn Single submitter ⚠
- p.Thr201Asn Single submitter ⚠
- p.Thr5Ile Single submitter ⚠
- p.Val182Phe Single submitter